TY - JOUR
T1 - Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
AU - Nishimura, Darryl Y.
AU - Searby, Charles C.
AU - Carmi, Rivka
AU - Elbedour, Khalil
AU - Van Maldergem, Lionel
AU - Fulton, Anne B.
AU - Lam, Byron L.
AU - Powell, Berkley R.
AU - Swiderski, Ruth E.
AU - Bugge, Kevin E.
AU - Haider, Neena B.
AU - Kwitek-Black, Anne E.
AU - Ying, Lihua
AU - Duhl, David M.
AU - Gorman, Susan W.
AU - Heon, Elise
AU - Iannaccone, Alessandro
AU - Bonneau, Dominique
AU - Biesecker, Leslie G.
AU - Jacobson, Samuel G.
AU - Stone, Edwin M.
AU - Sheffield, Val C.
PY - 2001/4/1
Y1 - 2001/4/1
N2 - Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with the primary clinical features of obesity, pigmented retinopathy, polydactyly, hypogenitalism, mental retardation and renal anomalies. Associated features of the disorder include diabetes mellitus, hypertension and congenital heart disease. There are six known BBS loci, mapping to chromosomes 2, 3, 11, 15, 16 and 20. The BBS2 locus was initially mapped to an 18 cM interval on chromosome 16q21 with a large inbred Bedouin kindred. Further analysis of the Bedouin population allowed for the fine mapping of this locus to a 2 cM region distal to marker D16S408. Physical mapping and sequence analysis of this region resulted in the identification of a number of known genes and expressed sequence tag clusters. Mutation screening of a novel gene (BBS2) with a wide pattern of tissue expression revealed homozygous mutations in two inbred pedigrees, including the large Bedouin kindred used to initially identify the BBS2 locus. In addition, mutations were found in three of 18 unrelated BBS probands from small nuclear families.
AB - Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with the primary clinical features of obesity, pigmented retinopathy, polydactyly, hypogenitalism, mental retardation and renal anomalies. Associated features of the disorder include diabetes mellitus, hypertension and congenital heart disease. There are six known BBS loci, mapping to chromosomes 2, 3, 11, 15, 16 and 20. The BBS2 locus was initially mapped to an 18 cM interval on chromosome 16q21 with a large inbred Bedouin kindred. Further analysis of the Bedouin population allowed for the fine mapping of this locus to a 2 cM region distal to marker D16S408. Physical mapping and sequence analysis of this region resulted in the identification of a number of known genes and expressed sequence tag clusters. Mutation screening of a novel gene (BBS2) with a wide pattern of tissue expression revealed homozygous mutations in two inbred pedigrees, including the large Bedouin kindred used to initially identify the BBS2 locus. In addition, mutations were found in three of 18 unrelated BBS probands from small nuclear families.
UR - http://www.scopus.com/inward/record.url?scp=0035311942&partnerID=8YFLogxK
U2 - 10.1093/hmg/10.8.865
DO - 10.1093/hmg/10.8.865
M3 - Article
AN - SCOPUS:0035311942
SN - 0964-6906
VL - 10
SP - 865
EP - 874
JO - Human Molecular Genetics
JF - Human Molecular Genetics
IS - 8
ER -
